{"Name":"Tubulointerstitial nephritis and uveitis syndrome","DiseaseID__c":"GARD:0009252","id":9252,"encodedName":"tubulointerstitial-nephritis-and-uveitis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Tubulointerstitial nephritis and uveitis syndrome","Xref_IDs__c":"C123021; C1843273; C536922; MEDGEN:334715; MONDO:0011885; OMIM:607665; ORPHA:91500","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0011885","Disease_Description__c":"An autoimmune disorder comprising tubulointerstitial nephritis and uveitis.","GARD_Name__c":"Tubulointerstitial nephritis and uveitis syndrome","GARD_Synonym__c":"acute tubulointerstitial nephritis and uveitis syndrome; dobrin syndrome; tinu - tubulointerstitial nephritis with uveitis syndrome; 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dobrin syndrome; tinu - tubulointerstitial nephritis with uveitis syndrome; tinu syndrome; tubulointerstitial nephritis and uveitis; tubulointerstitial nephritis with uveitis; tubulointerstitial nephritis with uveitis syndrome","Name":"Tubulointerstitial nephritis and uveitis syndrome","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:91500"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:91500"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:91500"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:91500"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1843273"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=334715","Source__c":"C1843273","Xref__c":"MEDGEN:334715"},{"URL__c":"https://www.orpha.net/en/disease/detail/91500","Source__c":"C1843273; 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Depending on the stage of development, they can be external (type 1 NV) or internal (type 2 NV) to the retinal pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011506","HPO_Synonym__c":"Choroidal neovascular membrane","HPO_Name__c":"Choroidal neovascularization","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91500","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction below the normal ratio of the volume of red blood cells to the total volume of blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031851","HPO_Synonym__c":"Low hematocrit; Reduced Hct","HPO_Name__c":"Reduced hematocrit","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Infiltration of the renal tubular epithelium by lymphocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032589","HPO_Name__c":"Renal lymphocytic tubulitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032637","HPO_Name__c":"Renal interstitial edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91500","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. It can either have a cystoid aspect in the fovea, or a more diffuse aspect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040049","HPO_Name__c":"Macular edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91500","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001994","HPO_Synonym__c":"De toni-fanconi-debre syndrome; Renal tubular fanconi syndrome","HPO_Name__c":"Renal Fanconi syndrome","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:91500","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91500","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the uveal tract in which the primary site of inflammation is the vitreous.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012124","HPO_Name__c":"Intermediate uveitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91500","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031616","HPO_Name__c":"Anterior chamber flare","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91500","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of anemia in which the volume of the red blood cells is normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001897","HPO_Name__c":"Normocytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91500","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100586","HPO_Synonym__c":"Aseptic leukocyturia","HPO_Name__c":"Sterile pyuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:91500","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A red eruption of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000988","HPO_Synonym__c":"Skin rash","HPO_Name__c":"Skin rash","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91500","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008682","HPO_Synonym__c":"Acute tubular necrosis; Renal tubular necrosis","HPO_Name__c":"Renal tubular epithelial necrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91500","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. 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Histological studies show that radially orientated cystoid spaces consisting of ophthalmoscopically clear fluid are often clinically detectable in the macula area.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011505","HPO_Synonym__c":"Cystoid macular edema","HPO_Name__c":"Cystoid macular edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91500","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Microscopic hematuria detected by dipstick or microscopic examination of the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002907","HPO_Synonym__c":"Microhematuria; Occult hematuria; Small amount of blood in urine","HPO_Name__c":"Microscopic hematuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:91500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of uveitis that is not associated with the formation of granulomas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007813","HPO_Name__c":"Nongranulomatous uveitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91500","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91500","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91500","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91500","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025337","HPO_Synonym__c":"Red eye; Red eyes","HPO_Name__c":"Red eye","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91500","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012121","HPO_Name__c":"Panuveitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Ophthalmology","Nephrology","Pediatrics"],"Account":["Nephrology"],"Disease Category":["Nephrology"]},"synonyms":["acute tubulointerstitial nephritis and uveitis syndrome"," dobrin syndrome"," tinu - tubulointerstitial nephritis with uveitis syndrome"," tinu syndrome"," tubulointerstitial nephritis and uveitis"," tubulointerstitial nephritis with uveitis"," tubulointerstitial nephritis with uveitis syndrome"]}